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Subjects

Abstract

Mutations are the fundamental source of biological variation, and their rate is a crucial parameter for evolutionary and medical studies. Here we used whole-genome sequence data from 753 Icelandic males, grouped into 274 patrilines, to estimate the point mutation rate for 21.3 Mb of male-specific Y chromosome (MSY) sequence, on the basis of 1,365 meioses (47,123 years). The combined mutation rate for 15.2 Mb of X-degenerate (XDG), X-transposed (XTR) and ampliconic excluding palindromes (rAMP) sequence was 8.71 × 10−10 mutations per position per year (PPPY). We observed a lower rate (P = 0.04) of 7.37 × 10−10 PPPY for 6.1 Mb of sequence from palindromes (PAL), which was not statistically different from the rate of 7.2 × 10−10 PPPY for paternally transmitted autosomes1. We postulate that the difference between PAL and the other MSY regions may provide an indication of the rate at which nascent autosomal and PAL de novo mutations are repaired as a result of gene conversion.

Acknowledgements

We thank E. Haraldsdóttir for help with processing some of the whole-genome sequencing data and K.S.H. Moore for help with calling SNP microarray genotypes. A.W.E. was funded by a grant from Rannís, Icelandic Student Research Fund (1103340061). A.J. was funded by the EUROTAST Marie Curie Framework Programme 7 Initial Training Network (290344).

Author information

Affiliations

deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.

Agnar Helgason

, Axel W Einarsson

, Valdís B Guðmundsdóttir

, Ásgeir Sigurðsson

, Ellen D Gunnarsdóttir

, Anuradha Jagadeesan

, S Sunna Ebenesersdóttir

, Augustine Kong

& Kári Stefánsson

Department of Anthropology, University of Iceland, Reykjavik, Iceland.

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Contributions

A.H., A.W.E. and K.S. planned and directed the research. A.H. and A.W.E. analyzed the data, with A.K., V.B.G., E.D.G., A.J. and S.S.E. providing assistance with particular tasks. Á.S. performed the Sanger sequencing for the validation of de novo mutations. A.H., A.W.E. and K.S. wrote the manuscript.